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Chromosomal abnormalities associated with Hirschsprung disease

Chromosomal abnormalities associated with Hirschsprung disease
Chromosomal abnormality Features Chromosomal locus (gene symbol) Percent of individuals with this disorder who have Hirschsprung disease
Down syndrome Intellectual disability, short stature, congenital heart disease, craniofacial features Trisomy 21 0.6 to 3%
Deletion 10q Intellectual disability, hypotonia del 10q11.2 (RET) Unknown
Deletion 13q Intellectual disability, growth failure, craniofacial features del 13q22 (EDNRB) Unknown
Deletion 2q22 Intellectual disability, microcephaly, craniofacial features, seizures del 2q22 (ZFHX1B) Unknown
Reproduced with permission from: Parisi MA. Hirschsprung Disease Overview. 2002 Jul 12 [Updated 2011 Nov 10]. In: GeneReviews, Pagon RA, Adam MP, Ardinger HH, et al (Eds), Seattle: University of Washington, Seattle 1993-2015. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1439/ (Accessed on April 15, 2015). Copyright © 1993-2015, University of Washington, Seattle. All rights reserved.
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